XRCC1 Arg194Trp polymorphism, risk of nonmelanoma skin cancer and extramammary Paget’s disease in a Japanese population
Open Access
- 26 May 2012
- journal article
- research article
- Published by Springer Science and Business Media LLC in Archiv für dermatologische Forschung
- Vol. 304 (5), 363-370
- https://doi.org/10.1007/s00403-012-1245-1
Abstract
The X-ray repair cross-complementing groups 1 gene plays an important role in base excision repair. At least three common single nucleotide polymorphisms frequently occur in this gene (Arg399Gln, Arg194Trp and Arg280His). Recent studies reported that these polymorphisms were associated with not only risk of visceral malignancy but also that of skin cancer such as basal cell carcinoma and squamous cell carcinoma, whereas the results of previous study vary among races. In this case–control study, we investigated whether these single nucleotide polymorphisms were associated with the risk of skin cancer in a Japanese population. The study population was composed of 197 patients with skin cancer (27 actinic keratoses, 47 basal cell carcinomas, 27 squamous cell carcinomas, 29 Bowen’s diseases, 46 malignant melanomas and 21 extramammary Paget’s diseases) and 93 control subjects. We genotyped two single nucleotide polymorphisms (Arg194Trp and Arg399Gln) using polymerase chain reaction-restriction fragments length polymorphism analysis. We found a significantly increased risk for basal cell carcinoma, squamous cell carcinoma and extramammary Paget’s disease associated with Arg194Trp [adjusted odds ratio (AOR) = 2.347, 3.587, 3.741, 95 % confidence interval (CI) 1.02–5.39, 1.19–10.8, 1.15–12.2, respectively]. We also found a significantly decreased risk for basal cell carcinoma associated with Gln399Gln (AOR = 0.259, 95 % CI 0.07–0.96). Our data suggest that the Arg194Trp polymorphism could be associated with nonmelanoma skin cancer and extramammary Paget’s disease risk in a Japanese population.Keywords
This publication has 21 references indexed in Scilit:
- Ethnic disparities in Americans of European descent versus Americans of African descent related to polymorphic ERCC1, ERCC2, XRCC1, and PARP1Molecular Cancer Therapeutics, 2008
- Genetic variation in XRCC1, sun exposure, and risk of skin cancerBritish Journal of Cancer, 2004
- The role of interleukin 10 in the pathogenesis and potential treatment of skin diseasesJournal of the American Academy of Dermatology, 2004
- PIG7/LITAF gene mutation and overexpression of its gene product in extramammary Paget's diseaseInternational Journal of Cancer, 2004
- DNA Repair Gene XRCC1 and XPD Polymorphisms and Risk of Prostate CancerCancer Epidemiology, Biomarkers & Prevention, 2004
- Polymorphisms in the DNA repair gene XRCC1, breast cancer risk, and response to radiotherapy.2003
- The XRCC1 Arg399Gln polymorphism, sunburn, and non-melanoma skin cancer: evidence of gene-environment interaction.2002
- Infrequent mutation of the ras genes in skin tumors of xeroderma pigmentosum patients in JapanInternational Journal of Cancer, 1992
- A role for sunlight in skin cancer: UV-induced p53 mutations in squamous cell carcinoma.Proceedings of the National Academy of Sciences, 1991
- Molecular cloning of the human XRCC1 gene, which corrects defective DNA strand break repair and sister chromatid exchange.Molecular and Cellular Biology, 1990